No paralogue variants have been mapped to residue 304 for CACNA1C.
CACNA1C | LVLFVIIIYAIIGLELFMGKMHKTCYNQEG>I<AD-------------V----PA---E---- | 310 |
CACNA1A | LLFFAILIFAIIGLEFYMGKFHTTCFE-E->G<TD------------DI-----Q---G---- | 266 |
CACNA1B | LLFFAILMFAIIGLEFYMGKFHKACFP-N->S<TD------------A------E---P---- | 262 |
CACNA1D | LVLFVIIIYAIIGLELFIGKMHKTCFF-A->D<SD-------------I----VA---E---- | 311 |
CACNA1E | LLFFAILMFAIIGLEFYSGKLHRACFM-N->N<SG------------IL----EG---F---- | 262 |
CACNA1F | LVLFVIIIYAIIGLELFLGRMHKTCYF-L->G<SD-------------M----EA---E---- | 277 |
CACNA1G | LCFFVFFIFGIVGVQLWAGLLRNRCFL-P->E<NFSLPLSVD-LE-RYYQT-ENE---DESPF | 269 |
CACNA1H | LCFFVFFIFGIVGVQLWAGLLRNRCFL-D->S<AFVRNNNLTFLR-PYYQT-EEG---EENPF | 289 |
CACNA1I | LCFFVFFIFGIIGVQLWAGLLRNRCFL-E->E<NFTIQGDVA-LP-PYYQP-EED---DEMPF | 267 |
CACNA1S | LVLFMVIIYAIIGLELFKGKMHKTCYF-I->G<TD-------------I----VATVEN---- | 239 |
SCN10A | LTIFCLSVFALVGLQLFKGNLKNKCVK-N->-<-----------------DMAVN---E-TTN | 288 |
SCN11A | LTFFCLSIFALVGQQLFMGSLNLKCIS-R->-<-----------------DCK-N---I-SN- | 293 |
SCN1A | LTVFCLSVFALIGLQLFMGNLRNKCIQ-WP>-<PTNASLEEH-SI-EKNITVNYN---G-TL- | 304 |
SCN2A | LTVFCLSVFALIGLQLFMGNLRNKCLQ-WP>-<PDNSSFEIN-ITSFFNNSLDGN---G-TT- | 306 |
SCN3A | LTVFCLSVFALIGLQLFMGNLRNKCLQ-WP>-<PSDSAFETN-TTSYFNGTMDSN---G-TF- | 305 |
SCN4A | LTVFCLSVFALVGLQLFMGNLRQKCVR-WP>-<PPFN--DTN-TTWYSNDTWYGN---D-TWY | 307 |
SCN5A | LTVFCLSVFALIGLQLFMGNLRHKCVR--->-<----------------NFTALN---G-TN- | 291 |
SCN7A | LTLFFLSIFSLIGMGLFMGNLKHKCFR-WP>-<QENE-----------------N---E-TLH | 280 |
SCN8A | LTVFCLSVFALIGLQLFMGNLRNKCVV-WP>-<------------------INFN---E-SY- | 292 |
SCN9A | LTVFCLSVFALIGLQLFMGNLKHKCFR-NS>-<------------------LENN---E-TL- | 286 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I304T | c.911T>C | Benign | rs201756421 | SIFT: tolerated Polyphen: benign |